research article open access genetic discrimination and life insurance… · 2017-08-23 ·...

RESEARCH ARTICLE Open Access

Genetic discrimination and life insurance:a systematic review of the evidenceYann Joly1*, Ida Ngueng Feze1 and Jacques Simard2

Abstract

Background: Since the late 1980s, genetic discrimination has remained one of the major concerns associated withgenetic research and clinical genetics. Europe has adopted a plethora of laws and policies, both at the regionaland national levels, to prevent insurers from having access to genetic information for underwriting. Legislatorsfrom the United States and the United Kingdom have also felt compelled to adopt protective measures specificallyaddressing genetics and insurance. But does the available evidence really confirm the popular apprehension aboutgenetic discrimination and the subsequent genetic exceptionalism?

Methods: This paper presents the results of a systematic, critical review of over 20 years of genetic discriminationstudies in the context of life insurance.

Results: The available data clearly document the existence of individual cases of genetic discrimination. Thesignificance of this initial finding is, however, greatly diminished by four observations. First, the methodology usedin most of the studies is not sufficiently robust to clearly establish either the prevalence or the impact ofdiscriminatory practices. Second, the current body of evidence was mostly developed around a small number of‘classic’ genetic conditions. Third, the heterogeneity and small scope of most of the studies prevents formalstatistical analysis of the aggregate results. Fourth, the small number of reported genetic discrimination cases insome studies could indicate that these incidents took place due to occasional errors, rather than the voluntary orplanned choice, of the insurers.

Conclusion: Important methodological limitations and inconsistencies among the studies considered make itextremely difficult, at the moment, to justify policy action taken on the basis of evidence alone. Nonetheless, otherempirical and theoretical factors have emerged (for example, the prevalence and impact of the fear of geneticdiscrimination among patients and research participants, the (un)importance of genetic information for thecommercial viability of the private life insurance industry, and the need to develop more equitable schemes ofaccess to life insurance) that should be considered along with the available evidence of genetic discrimination fora more holistic view of the debate.

Keywords: Evidence, genetic discrimination, genetic exceptionalism, GINA, life insurance, personalized medicine,stigmatization, systematic review

BackgroundThe prototypical issue used when discussing the ethical,legal and social issues associated with scientific progress ingenetics has been genetic discrimination (GD). Lawyersand ethicists have been quick to point out the risk thatuninhibited genetic progress would entice governments

and institutions to treat people differently on the basis oftheir genetic constitution [1]. GD has been defined inmany ways, a mark of the influence of divergent sociocul-tural and scholarly backgrounds. Insurers write of ‘rational(actuarial)-irrational discrimination’ [2], lawyers write of‘legal-illegal (illicit) discrimination’ [3], whereas patientsgenerally adopt a much broader definition encompassingall differential, negative treatments of an individual basedon his or her genetic makeup [4]. However defined, wide-spread GD could potentially result in practices that

* Correspondence: [email protected] of Human Genetics, Faculty of Medicine, McGill University, 740Dr Penfield Avenue, Suite 5200, Montreal, H3A 1A5 CanadaFull list of author information is available at the end of the article

Joly et al. BMC Medicine 2013, 11:25http://www.biomedcentral.com/1741-7015/11/25

© 2013 Joly et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative CommonsAttribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction inany medium, provided the original work is properly cited.

mailto:[email protected]

http://creativecommons.org/licenses/by/2.0

exclude segments of the population from access to basicsocial necessities such as healthcare, insurance, housing,reproductive freedom and employment. Mass media hasjoined the debate, ensuring that the issue of GD is notconfined to isolated academic discourse [5].Among the fields of potential discrimination, one of the

most commonly-debated topics has been the use ofgenetic information by the insurance industry to selectapplicants and determine insurance premiums. The dualnature of personal insurance, which is partly considered asboth a public and private good in most jurisdictions, andthe relatively limited amount of public trust in the prac-tices of the private insurance sector might explain some ofthis attention. Policymakers themselves have entered thearena of debate following substantial pressure from theirconstituents. In continental Europe, the legislativeresponse has been swift and strong. GD is prohibited bythe Convention on Biomedicine (1997), the Charter ofFundamental Rights of the European Union (2000), andthe national legislation of many individual countries [6]. Inthe United States, the much-discussed Genetic InformationNondiscrimination Act of 2008 (GINA) (2008) offers pro-tection mainly in the domains of health insurance andemployment [7]. In the United Kingdom, the Associationof British Insurers and the British government have agreedon a Concordat and Moratorium on Genetics and Insur-ance that significantly restricts the capacity of Britishinsurers to request genetic information from insuranceapplicants [8]. Australian (2008 amendment to theDisability Discrimination Act), Canadian and East Asianpolicymakers have also been active in this area, althoughless so than their European counterparts [6,9].This paper focuses on GD in the field of life insurance.

Life insurance facilitates the economic security of thepolicy holder. It is often described as a quasi-essentialsocial good, a gateway good necessary to have access toimportant social and economic activities that provideconsiderable peace of mind to the policyholder [10].Access to life insurance is far from universal and it mustgenerally be purchased through a contractual agreementwith a private insurance company. The majority of lifeinsurance applicants are accepted at a standard rate setby insurance companies. Nevertheless, for the smallgroup of individuals excluded from the common pool,the consequences can be dire [11].Is the substantial attention given to the question of GD

in academic literature, popular media and policymakingcircles justified by the empirical evidence currently avail-able? In other words, are the observed concerns andresponses based on documented cases of discrimination,anecdotes or other less visible factors? This questionprompted us to undertake a study, which to our knowl-edge is the first attempt to systematically review all avail-able empirical evidence of GD using the life insurance

sector as a subject of analysis. This study analyzes actualcases of discrimination, the evidentiary limitations, and thepossibility of drawing overarching conclusions from theavailable evidence.

MethodsTo assess the state of the evidence, we looked for allstudies published in the scientific literature documentingthe occurrence of GD in the context of life insurance.

Selection of publicationsWe developed and applied the following inclusion criteriato identify and select eligible studies: published in English;focused on the collection or capture of information on theoccurrence of GD in life insurance whether direct(through patients’ or participants’ self-report, such asinterviews or surveys) or indirect (through professionalssuch as doctors, genetic counselors and insurers); focusedon a primary or follow-up study (multiple publications onthe same study were grouped together and treated as asingle study). Narrative and systematic reviews wereincluded only if they also presented additional empiricaldata on the occurrence of GD in the context of life insur-ance (that is, other than the data contained in the studiesreviewed therein).Eligible studies were excluded if: they did not focus in

whole or part on the occurrence of GD in the context oflife insurance; they offered insufficient evidence; or theycontained serious methodological flaws. Editorial letterswith no primary data, comments, opinions, abstracts andunpublished studies were excluded. Studies capturing thefear of GD rather than actual experiences were alsoexcluded.

Literature searchSearches were conducted from March until May 2012on PubMed, Google Scholar, Social Science ResearchNetwork and Hein Online, using the Boolean operators‘OR’ and ‘AND’ with various permutations of the follow-ing keywords: ‘genetic discrimination’, ‘study’, ‘life insur-ance’, ‘survey’, ‘data’, ‘empirical evidence’ and ‘genetictest’.First, we conducted keyword searches that produced a

list including 534 search results. Using the terms ‘geneticdiscrimination’ and ‘life insurance’ combined (‘AND’), weobtained a list of 29 publications from the databasePubMed. We executed a search on Google Scholar includ-ing all the following keywords combined (‘AND’): ‘geneticdiscrimination’, ‘study’, ‘life insurance’, ‘survey’, ‘data’ and‘empirical evidence’. This produced 155 search results.Our search on Social Science Research Network using theterms ‘genetic discrimination’ yielded 100 results. Our lastsearch was conducted on Hein Online using the followingcombination of terms ‘(“genetic discrimination” AND “life


of 15

insurance”) AND “genetic test” OR “data” OR “empiricalevidence” OR “survey"’, and generated 250 results.Second, applying our selection criteria, we reviewed

the titles and available abstracts of each of the 534search results identified through our keyword searches,and retained 29 publications.Third, we performed a systematic hand search in the

references list and bibliography of each of the 29 articlesto identify additional relevant publications and assesscross-referencing. This led to 16 more eligible studies.Hence, we uncovered a total of 45 eligible studies rele-vant to GD in the context of life insurance.Thereafter, eligible studies were each independently

assessed for relevance by two researchers (YJ, INF). Apply-ing the selection criteria above, we retained studies docu-menting experiences of discrimination through both directand indirect evidence on the occurrence of GD. Based onthese criteria, 12 studies were excluded. This final list wasalso compared with references and resources provided bya recent review dealing with GD in numerous contextsincluding life insurance [9]. The 33 studies retained repre-sent a systematic overview of the empirical evidence ofGD in the field of life insurance. For an overview of thesearch strategy, see Figure 1.

Data extractionThe vastly different nature of the available studies sug-gested that formal statistical analysis and comparison ofdiscrimination cases would be inappropriate. Instead, weanalyzed the data through a social science comparativeapproach that incorporates both quantitative descriptiveanalysis and qualitative content analysis. Key elements ofthe selected studies were coded independently accordingto their relevance to pre-selected themes. We extractedinformation on study scope (country and context), geneticconditions (whether the study focused on a single or mul-tiple conditions), definition of GD (how GD was construedby the researchers), validation (whether a formal validationprocess was disclosed by the authors), conclusions (howresults were qualified: whether evidence of GD was found,whether policies or laws were required), and number ofcitations (how often the publication was cited by peers).Two trained researchers (YJ, INF) independently evaluatedthe results and discrepancies were resolved by consensus.Results obtained on individual themes were qualitativelyanalyzed and, where appropriate, converted to statisticaldata (values were rounded according to convention;this process was based on the information presented inTable 1 [12-44]).

Results and discussionScope and contextTogether, the 33 studies represent two decades’ worth ofresearch published from 1991 to 2012 (see Table 1).

A small peak in the number of studies (eight studies)can be identified between 2006 and 2007, which can belinked to the charged political climate in the US andrenewed academic interest that prefaced the adoption ofGINA. These studies generally gathered evidencethrough direct sources (that is, individuals commentingon their own experience with insurance companies), butsome obtained their data through secondary sourcessuch as insurers, insurance associations, health profes-sionals or patient groups.The majority of studies reviewed (73%) aimed at pro-

viding evidence of GD in a variety of fields (for example,employment, immigration, adoption and access to health-care), including that of life insurance. A minority (27%)focused exclusively on the context of life insurance (seeTable 1). The majority of the available evidence (58%)comes from studies involving North American popula-tion groups (see Figure 2 and Table 2).Surprisingly, given the rather strong European policy

response mentioned above, only six studies (18%) providedempirical data on the situation prevailing in continentalEurope, and five of these studies were very specific in nat-ure, addressing the context of familial hypercholesterole-mia and hypertrophic cardiomyopathy in the Netherlands,hereditary breast and colorectal cancer in Norway, andHuntington’s disease in Germany [24,38,40,44].The substantial number of studies carried out in Canada

(seven studies), where no specific laws have been adoptedto limit the use of genetic information by life insurers, andthe absence of studies in a highly legislated European con-text, could suggest that the number of GD studies carriedout in a given country, as well as the number of GD casesreported, does not necessarily have a strong correlativeimpact on policymaking. A notable exception to this trendcould be Australia, whose Disability Act was amended fol-lowing the publication of major studies on GD and anextensive report from the Australian Law Reform Com-mission [45].

Genetic conditions investigatedThe mitigated overall results are not easily interpretableand the task is exacerbated by the serious methodologicalchallenges faced in some of these studies. One of the con-straints concerns the range of genetic diseases investigatedin the literature. Reviewing the scope of the 33 studies, itis apparent that they only uncovered evidence on a verylimited number of highly penetrant, familial, adult-onset,relatively well-known genetic conditions.The majority of the evidence is based on the following

five conditions: Huntington’s disease, hereditary breast andovarian cancer, hemochromatosis, familial hypercholestero-lemia and hereditary colorectal cancer (see Figure 3). Ofthe 33 studies reviewed, 19 (58%) specifically focus on oneof these five conditions (see Figure 4). Moreover, evidence


of 15

on genetic discrimination in the context of Huntington’sdisease is provided in over 14 of the 33 studies, and on her-editary breast and ovarian cancer in more than 10 (seeFigure 3).The high number of studies focusing on a single condi-

tion (see Figure 4) makes it particularly difficult to gener-alize from the results of a systematic comparison of theliterature to reach a broad, robust conclusion on GDapplicable to the whole research or clinical genetic

context. Moreover, research on GD in the fields of perso-nalized medicine and/or pharmacogenomics, infectiousdiseases and genome-wide association studies remainsabsent in the literature, thereby resulting in a completelack of data on GD in the context of emerging ‘omics’research. This is particularly concerning given that theamount of genomic information in the typical individual’smedical record is likely to increase tremendously in thenext few years as whole-genome sequencing costs are

STEP 1: Keyword searches in PubMed, Google Scholar, SSNR and Hein Online

n= 534

STEP 2: Identification of relevant publications through title

and abstract analysis based on inclusion criteria n= 29

STEP 3: Hand search of the reference lists and bibliographies

of the 29 articles produced 16 additional relevant publications

n=45

Assessment: Full text review of each article

12 articles excluded n=33

Figure 1 Methodology for selecting eligible studies.


of 15

Table 1 Revised studies.

Reference Date Scope Title Genetic conditions Studyspecificto lifeinsurance

Validationprocessprovided

Conclusionson GDevidencea

Additionalcomments/existing policies

[12] 1991 United Kingdom Cholesterol screening and life assurance. Familial hypercholesterolemia. Yes No 1

[13] 1992 Canada, United States Discrimination as a consequence ofgenetic testing.

A variety of genetic conditionsincluding Huntington’s disease,Friedreich ataxia, Charcot-Marie-Tooth,hemochromatosis, phenylketonuria andothers.

No No 1

[14] 1992 United States A survey of state insurancecommissioners concerning genetictesting and life insurance.

Spina bifida, Huntington’s disease, cysticfibrosis, breast cancer, coronary arterydisease and sickle cell anemia.

Yes No 2

[15] 1993 United States A survey of medical directors of lifeinsurance companies concerning use ofgenetic information.

Spina bifida, Huntington’s disease, cysticfibrosis, breast cancer, coronary arterydisease, and sickle cell anemia.

Yes Yes 1

[16] 1994 United States Genetic discrimination and screening forhemochromatosis.

Hemochromatosis. No Yes 2

[17] 1996 United States Individual, family, and societaldimensions of genetic discrimination: acase study analysis.

Huntington’s disease, phenylketonuria,hemochromatosis, andmucopolysaccharidoses.

No Yes 2

[18] 1996 United States Genetic discrimination: perspectives ofconsumers.

Conditions were not enumerated but101 different primary genetic disorderswere represented.

No No 1

[4] 1998 United Kingdom Genetic discrimination in life insurance:empirical evidence from a crosssectional survey of genetic supportgroups in the United Kingdom.

Cystic fibrosis, Huntington’s disease,Marfan syndrome, muscular dystrophy,myotonic dystrophy, neurofibromatosisand tuberous sclerosis.

Yes No 2 Concordat andmoratorium ongenetics andinsurance

[19] 1998 United States Health, life and disability insurance andhereditary non-polyposis colorectalcancer.

Non-polyposis colorectal cancer. No No 2

[20] 1998 to 1999 Canada, United States “Genetic discrimination": results of asurvey of genetics professionals, primarycare physicians, patients and public.

Conditions were not enumerated. No No 2

[21] 2000 Europe Insurance considerations for individualswith a high risk of breast cancer inEurope: some recommendations.

Various conditions, including breast andovarian cancer, Von Hippel-Lindausyndrome and hereditary non-polyposiscolon cancer.

No No 2 Some of thecountries includedin the study hadadopted laws orpolicies

[22] 2000 Norway Health, life and disability insurance andhereditary risk for breast or colorectalcancer.

Breast and colorectal cancer. No No 2 Act of 5 December2003 No. 100relating to theapplication ofbiotechnology inhuman medicine

Jolyet

al.BMCMedicine

2013,11:25http://w

ww.biom

edcentral.com/1741-7015/11/25

Page5of

15

Table 1 Revised studies. (Continued)

[23] 2001 Australia Genetic discrimination in Australia. Various genetic conditions, includingbreast and ovarian cancer, inheritedbowel cancer (familial adenomatouspolyposis), inherited bowel cancer(hereditary non-polyposis colorectalcancer), familial melanoma, rare cancersyndrome, familial early-onset Alzheimerdisease, Huntington’s disease, rare late-onset neurodegenerative disorders(spinocerebellar ataxia),hemochromatosis, familial highcholesterol (hyperlipidemia),neuromuscular disorders, nervoussystem disorder (Charcot-Marie-Toothdisease), prion disease (Creutzfeldt-Jakob disease), connective tissuedisorder (Marfan syndrome) andmyotonic dystrophy.

No No 1

[24] 2002 Netherlands Getting insurance after geneticscreening on familialhypercholesterolemia; the need toeducate both insurers and the public toincrease adherence to nationalguidelines in the Netherlands.

Familial hypercholesterolemia. Yes No 1 The Act on MedicalExaminations (1998)

[25] 2003 United States Life insurance and breast cancer riskassessment: adverse selection, genetictesting decisions, and discrimination.

Breast cancer. Yes No 3

[26] 2003 United States Insurance, employment, andpsychosocial consequences of adiagnosis of hereditaryhemochromatosis in subjects withoutend organ damage.


[27] 2004 United States Perceptions of genetic discriminationamong at-risk relatives of colorectalcancer patients.

Colorectal cancer. No No 2

[28] 2004 United Kingdom Effect of statin treatment for familialhypercholesterolaemia on life assurance:results of consecutive surveys in 1990and 2002.

Familial hypercholesterolemia. Yes No 3 Concordat andmoratorium ongenetics andinsuranceFollow-up study to[12]

[29] 2004 United Kingdom Psychosocial impact of breast/ovarian(BRCA1/2) cancer-predictive genetictesting in a UK multi-centre clinicalcohort.

Breast and ovarian cancer. No No 1 Concordat andmoratorium ongenetics andinsurance

Jolyet

al.BMCMedicine

2013,11:25http://w

ww.biom


Page6of

15


[30] 2007 United Kingdom Predictive genetic testing for BRCA1/2 ina UK clinical cohort: three-year follow-up.

Breast and ovarian cancer. No No 1 Concordat andmoratorium ongenetics andinsuranceThree- year follow-up study to [29]

[31] 2007 Canada, United States Genetic screening for iron overload: noevidence of discrimination at 1 year.


[32-34] 2007 to 2009 Australia (1) Investigating genetic discriminationin Australia: perceptions and experiencesof clinical genetics service clientsregarding coercion to test, insuranceand employment.(2) Investigating genetic discriminationin Australia: a large-scale survey ofclinical genetics clients.(3) Verification of consumers’experiences and perceptions of geneticdiscrimination and its impact onutilization of genetic testing.

Hereditary hemochromatosis; inheritedpredisposition to blood clots (hereditarythrombophilia); hereditary breast andovarian cancers; hereditary bowelcancer (familial adenomatous polyposisand hereditary non-polyposis coloncancer; familial melanoma; raresyndromes such as multiple endocrineneoplasia, Von Hippel-Lindau syndrome;neurodegenerative conditions (spino-cerebellar ataxia; Huntington’s disease;early-onset Alzheimer disease; motorneuron disease; prion disease); familialhypercholesterolemia; familialhypertrophic cardiomyopathy;hereditary hypertension; hereditaryemphysema (for example, a-1antitrypsin deficiency); adult polycystickidney disease and ‘other’.

No Yes 1 All threepublications relateto the same study

[35] 2007 Australia The use of legal remedies in Australiafor pursuing allegations of geneticdiscrimination: findings of an empiricalstudy.

No particular genetic condition wassought after but case result pertainedto sickle cell.

No Yes 3

[3] 2007 Australia Investigating genetic discrimination inthe Australian life insurance sector: useof genetic test results in underwriting1999-2003.

No particular genetic condition wassought after but results concerned:hereditary hemochromatosis,Huntington’s disease, breast andovarian cancer, cerebral autosomaldominant arteriopathy with subcorticalinfarcts and leukoencephalopathy,colorectal cancer, hereditary non-polyposis colorectal cancer, familialadenomatous polyposis, thrombophiliafactor V (Leiden) mutation, prothrombingene mutation, Charcot-Marie-Toothdisease, Marfan syndrome, myotonicdystrophy, multiple endocrineneoplasia, polycystic kidney disease, andspinocerebellar ataxia.

Yes No 2 Study related toOtlowski et al, 2007[32-34]

[36] 2008 Canada Engagement with geneticdiscrimination: concerns and experiencesin the context of Huntington disease.

Huntington’s disease. No No 1

Jolyet

al.BMCMedicine

2013,11:25http://w

ww.biom


Page7of

15


[37] 2009 Canada Perceptions of genetic discriminationamong people at risk for Huntington’sdisease: a cross sectional survey.


[38] 2009 Austria, Germany,United States

“A slap in the face”. An exploratory studyof genetic discrimination in Germany.

Huntington’s disease. No Yes 1 Austria, GeneTechnology Act of1995Germany, Law onGenetic Diagnostic,2009

[39] 2009 United States Survey of unaffected BRCA andmismatch repair (MMR) mutationpositive individuals.

BRCA. No No 2

[40] 2010 Netherlands Obtaining insurance after DNAdiagnostics: a survey amonghypertrophic cardiomyopathy mutationcarriers.

Hypertrophic cardiomyopathy. No No 2 The Act on MedicalExaminations (1998)

[41] 2010 Australia, Canada,United States

Perception, experience, and response togenetic discrimination in Huntingtondisease: the international RESPOND-HDstudy.

Huntington’s disease. No No 2 Australia, 2008amendment to theDisabilityDiscrimination ActUS, GeneticInformationNondiscriminationAct of 2008 (GINA)

[42] 2010 United States Views of discrimination amongindividuals confronting genetic disease.

Huntington’s Disease, breast cancer,and Alpha-1 antitrypsin deficiency.

No No 2 US, GeneticInformationNondiscriminationAct of 2008 (GINA)

[43] 2012 Canada Beyond the patient: the broader impactof genetic discrimination amongindividuals at risk of Huntington disease.


[44] 2012 Netherlands Improved access to life insurance aftergenetic diagnosis of familialhypercholesterolaemia: cross-sectionalpostal questionnaire study.

Familial hypercholesterolemia. Yes No 2 The Act on MedicalExaminations (1998)Follow-up to [24].

a1 = exist and is a concern; 2 = limited, present only marginal concern; 3 = no evidence; GD: genetic discrimination.

Jolyet

al.BMCMedicine

2013,11:25http://w

ww.biom


Page8of

15

reduced and personalized medicine becomes more com-mon in clinical settings [46].

Definition of genetic discriminationThe authors of the 33 studies all struggled with the mean-ing of GD (examples of GD definitions are provided inTable 3). Several studies refrained from using the term‘genetic discrimination’ in their questionnaire so as toavoid biasing responses. However, the paradoxical conse-quence of this methodological approach was over-report-ing due to the tendency of participants to declare anynegative outcome they faced while applying for life

insurance as an instance of discrimination [47]. When spe-cifically included in survey questionnaires or data analysisstrategies, the definition of GD varied widely (see Table 3),greatly reducing the possibility of meaningful comparison.Indeed, the challenge of defining GD led a study author toconclude that ‘[t]he notion of finding wholly objective andovert evidence, as opposed to subjective and implicitaccounts of discrimination may [n]ot be entirely realistic’[42]. Studies choosing to adopt a broad definition, or nodefinition at all, tended to report the highest incidence ofGD cases [36]. Studies using a legal definition of GDobtained lower results [3]. But, because laws on this topic

0

2

4

6

8

10

12

14

No. of Studies

Country studied * Region

Figure 2 Studies on genetic discrimination and life insurance by country.

Table 2 Distribution of results on the evidence of genetic discrimination.

Results by region studied All studies (33)

Conclusions on theevidence of GD

Europe(11)

US andCanada(19)

Australia(5)

Studies on singlecondition(n = 19)a

Studies on multipleconditions(n = 14)a

Validatedstudies(n = 8)a

Non-validatedstudies(n = 25)a

Overall(n = 33)

(1) GD exists and is aconcern

5 8 2 9 5 4 10 14

(2) GD exists but is rareand exceptional

5 10 2 8 8 3 13 16

(3) There was no evidenceof GD

1 1 1 2 1 1 2 3

aOut of 33. GD: genetic discrimination.


of 15

vary significantly across jurisdictions, these studies are dif-ficult to compare or integrate with one another outside oftheir national context.To obtain more robust and comparable results, some

studies have used the criteria of ‘irrational discrimination’ -discrimination that is not based on scientifically validatedand actuarially relevant genetic information - as a selectioncriterion to assess the practice of insurers. However,because negative decisions by life insurers against some ofthe most genetically at-risk individuals who might havepressing need to obtain life insurance (for example, anasymptomatic patient having tested positive for a mono-genic dominant serious condition) would not necessarilyconstitute irrational GD, use of this criterion could argu-ably be perceived as unethical. The partly subjective natureof the underwriting process (illustrated by the high

variability between the guidelines and questionnaires usedby different insurance companies) and our limited knowl-edge of the genomics of complex diseases further limit theuse of the rationality criterion to determine objectively theprevalence of GD in insurance.The context of Huntington’s disease can be used to illus-

trate the impact of definitional choices on the results ofGD studies. Because this disease is a relatively well-knownautosomal dominant genetic condition, obtaining a posi-tive test result has serious implications for the futurehealth of an asymptomatic individual. This explains the lifeinsurers’ interest in being able to use test results or familyhistory information, regarding this particular disease, forunderwriting. This is in turn reflected in the results of GDstudies. Studies investigating GD in the context ofHuntington’s disease and using a broad definition of GD

0 2 4 6 8

10 12 14 16

Huntington's Disease Hereditary Breast and Ovarian Cancer

Hemochromatosis Hypercholesterolemia Colorectal Cancer Genetic conditions

No. of Studies

Figure 3 Most studied genetic conditions in genetic discrimination and life insurance studies.

Huntington's Disease (5)

Hereditary Breast and Ovarian Cancer (4)

Hypercholesterolemia (4)

Hemochromatosis (3)

Colorectal cancer (2)

Hypertrophic cardiomyopathy (1)

Non specific studies, i.e. more than one condition (14)

Figure 4 Proportion of studies that focused on a single disease.


of 15

or no definition at all would likely identify a significantnumber of GD cases (exclusion, higher premiums or con-ditional acceptance). However, studies using a rationalityor legality criteria would generally report a much lowernumber of discrimination incidents.

Evidence of genetic discriminationAround half of the studies reviewed (48%) found that,although GD had some empirical basis, its incidence wasrare and it was not a significant source of insurancedenials [4,14,16,17,19-22,27,31,39,40,42,44]. A second cate-gory, comprising a considerable number of studies (42%),concluded that the existence of GD in life insurance wasdocumented by the evidence they provided and that thesituation gave grounds for serious concern. Within thiscategory, Huntington’s disease came up often [36-38,43].Early US studies in this category often advocated the adop-tion of laws and policies to prohibit access to geneticinformation by life insurers [17] or the development of amore generous public insurance system that would pro-vide a minimum amount of life insurance to all applicants[16]. Finally, a minority of studies (9%) found no empiricalevidence to support the existence of GD in the life insur-ance context.It should be mentioned that some, but not all, of the

countries covered by these studies, have already adoptedlaws prohibiting insurers’ access to genetic information(for example, the Netherlands, Norway, and Germany)(see Table 1). Authors of the 9% of studies finding noempirical evidence of GD were often of the opinion thatthe GD problem was more linked to media hype and fearof discrimination than to GD itself. These studies conse-quently pointed out the importance of educating thepublic and reassuring the concerns of patients andresearch participants about GD [22,40].Among the 19 studies dealing with a single genetic con-

dition (see Table 2), a significant number of studies (47%)concluded that there was sufficient evidence to raise ser-ious concerns about GD. Half of these studies concernedHuntington’s disease [36-38,43]. A second important

category (42%) found that, while GD existed, it was of rareoccurrence [19,31,39,40,44]. Finally, a minority of studies(11%) concluded there was no evidence of GD [25,28].To highlight the broad trends, it is possible to further

group the 33 reviewed studies into two categories: amajority of studies (58%) that believes that GD in thecontext of life insurance is a negligible issue that doesnot warrant the substantial societal debate and policyconcern generated to date, while a substantial minority(42%) concludes that GD exists and has impacted accessto life insurance negatively.

Validation and methodological limitationsValidating the study results (that is, avoiding biases andconcealments as well as ensuring that the data reflectcases of ‘real’ rather than ‘perceived’ discrimination) wasanother significant hurdle. For the purpose of ourresearch, validation was considered to be any additionalindependent step(s) or method(s) taken by the researcherto confirm the accuracy of reported discrimination events.A majority of the reviewed studies (76%) could not be con-sidered as validated (see Table 1 and 2); in this case itseems more accurate to talk about studies assessing the‘perceived’ level of GD rather than objective manifestationsof it. Testifying to the importance of the validation pro-cess, Wertz found that, ‘[W]hen asked to give details oftheir refusals, almost all [participants] described situationsthat are characteristic of general insurance practice. Theywere apparently objecting to what they perceived as unfairinsurance practices in general, rather than practices speci-fic to genetics.’ [20].Studies of patients were not the only ones in which

investigators noted the importance of verifying findings.Otlowski et al. observed that insurers surveyed on thetopic of GD were likely to under-report unfavorableunderwriting decisions [3].To attempt to reduce the biases associated with non-

validated results, several verification techniques havebeen used over the years. They include follow-up phonecalls or in-person interviews to elicit additional

Table 3 Examples of definitions of genetic discrimination.

Authors Reference Definition of genetic discrimination

Lapham et al.1996

[18] Prejudicial action as perceived by the respondents that resulted from insurers’ or employers’ knowledge of anindividual’s genetic condition, carrier status, or presumed carrier status, based on observation, family history, genetictesting, or other means of gathering genetic information.

Apse et al. 2004 [17] When people or organizations make unfair decisions about someone who is currently healthy based on geneticinformation (results of genetic testing or family history information).

Taylor et al.,2007

[34] Differential treatment of a person who has no manifest symptoms of a condition or disorder and which has occurredallegedly on the basis of their genetic characteristics or makeup, either real or assumed.

Bombard et al.2009

[37] Being unfairly prevented from doing something or being treated unfairly (because of family history or genetic testresults).

Erwin et al.2010

[41] The denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information,including family history or genetic test results.


of 15

information about reported cases of discrimination;review of the participant’s medical file (to verify if anunfavorable decision could be due to a pre-existing con-dition); audit of the documentation or correspondencerelating to any discrimination complaint; corroborationof discrimination reports by independent sources(ombudsman or similar administrative instances); caselaw; and so on. These validation techniques were used,alone or in combination, with various degrees of rigor byresearchers and these choices significantly impacted theresults of the reviewed studies.Other study limitations that impacted the results and

their compatibility with one another included the samplesize and type of people surveyed. Some studies wouldinclude individuals already affected by a genetic diseasebut asymptomatic [16], whereas others would includehealthy carriers [30]. Some would include asymptomaticuntested individuals with a family history of disease [37],and some would include information on patients thatwas obtained from indirect sources (family members,genetic counselors or members of a disease supportgroup) [21]. The lack of large-scale studies of well-char-acterized individuals also made it difficult to extrapolatefrom the results to objectively estimate the prevalence ofGD in the life insurance sector.Treloar and colleagues have written that, ‘conceptualiz-

ing, investigating and verifying individual’s experience ofgenetic discrimination constitute a challenging endeavour’[47]. Discrimination surely can take many subtle forms.For example, rather than charging a higher premium orexcluding an applicant, an insurance company coulddecide to process an application more slowly or ignorephone calls and emails in the hope of discouraging pursuitof the application process. In this case, the applicant mightnot even be aware that she or he has been discriminatedagainst.Given these serious challenges, it should come as no

surprise that the five most influential studies on GD withinacademia, as measured by Web of Science and GoogleScholar citation rates (see Table 4), all suffer from impor-tant limitations. For example, the most cited article on GDin life insurance, a precursor 1992 pilot study by Billings etal., used a broad definition of GD and reported 29responses describing 41 separate incidents of possible dis-crimination (32 in the field of insurance) [13]. The studyundertook an extensive advertising campaign (1,119 lettersmailed to genetic professionals, an advertisement in theAmerican Journal of Human Genetics, and similar adver-tisements published in several patient organization news-letters) to elicit this relatively small number of potentialdiscrimination cases from an under-defined populationthat included symptomatic respondents. The authors ofthe study acknowledged the limitations of their work stat-ing that it is not meant to demonstrate the prevalence or

the full range of discriminatory practices. Nevertheless,their conclusion that unfair and discriminatory use ofgenetic data existed and that new laws and sanctionsshould be considered does not seem to accord with thelimited data and exploratory methodology provided in thestudy. Learning from early experiences and challenges inthis field, more recent studies tend to draw more cautiousor qualified conclusions and to recognize their own sub-stantial methodological limitations [32].

ConclusionsThis systematic review offers evidence that the literaturerecognizes the existence of incidents of GD in NorthAmerica, Australia and the UK. We note four key obser-vations. First, the methodology used in most of the stu-dies is not sufficiently robust to clearly establish eitherthe prevalence or impact of discriminatory practices inthese regions. Second, the current body of evidence wasmostly developed around a very small number of ‘classic’genetic conditions. Third, the heterogeneity and smallscope of most of the studies prevent formal statisticalanalysis of the aggregate results. Fourth, the small num-ber of reported cases of GD in some studies could indi-cate that these incidents of GD took place due to error(s), rather than voluntary or planned choice, of theinsurers.These observations should not be interpreted as dis-

missing the importance of the significant work that hasbeen accomplished by researchers in this field over thepast 20 years. Our review has allowed us to confirm theexistence of GD, to identify large areas of evidentiarygaps (for example, discrimination in the context of‘omics’ studies) and methodological challenges (definingGD, verification of reported incidents of GD), and toidentify promising methodologies to build upon forfuture studies such as the one used for the AustralianGenetic Discrimination Project. In this project, a richbody of evidence was gathered from a variety of sourceswith special attention given to validation and methodo-logical concerns [3,32,33,47]. This information can beused by the international research community to con-tinue monitoring and documenting experiences of GDand its psychosocial and economic impact on individualswith improved, more streamlined research strategies.To return to our original question, can the intense

debate around GD in the life insurance context that hastaken place this past quarter-century be justified on thebasis of the available evidence? We must answer in thenegative. With the notable exception of studies on Hun-tington’s disease, none of the studies reviewed here (ortheir combination) brings irrefutable evidence of a sys-temic problem of GD that would yield a highly negativesocietal impact. From an ethical and policy standpoint,looking at the evidence alone suggests that targeted


of 15

Table 4 Most cited studies on genetic discrimination in life insurance.

Ranking Date Authors Title Reference Number of citations

1. 1992 PR Billings, MA Kohn, M de Cuevas, J Beckwith, JS Alper and MRNatowicz

Discrimination as a consequence of genetic testing [13] Web of Science: 287Google Scholar: 436

2. 1996 EV Lapham, C Kozma and JO Weiss Genetic discrimination: perspectives of consumers [18] Web of Science: 181Google Scholar: 255

3. 1996 LN Geller, JS Alper, PR Billings, CI Barash, J Beckwith and MR Natowicz Individual, family, and societal dimensions of genetic discrimination: acase study analysis

[17] Web of Science: N/AGoogle Scholar: 127

4. 2004 M Watson, C Foster, R Eeles, D Ashley, R Davidson, J Mackay, PJMorrison, P Hopwood, DGR Evans and Psychosocial StudyCollaborators

Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictivegenetic testing in a UK multi-centre clinical cohort

[29] Web of Science: 60Google Scholar: 92

5. 1998 L Low, S King and T Wilkie Genetic discrimination in life insurance: empirical evidence from a crosssectional survey of genetic support groups in the United Kingdom

[4] Web of Science: 57Google Scholar: 99

Jolyet

al.BMCMedicine

2013,11:25http://w

ww.biom


Page13

of15

policies (in the case of Huntington’s disease) and carefulmonitoring of the situation as it evolves is likely the mostadequate course of action.Nonetheless, other empirical and theoretical factors have

emerged that should be considered along with this empiri-cal data. They include the prevalence and impact of thefear of GD in patients and research participants, theimportance (or not) of genetic information for the com-mercial viability of the private life insurance industry, andthe need to develop more equitable schemes of access tolife insurance. These factors, along with sociocultural andhistorical elements linked to particular societies (such asearly experience with eugenics), would likely offer a betterexplanation as to why the GD debate became so polarizedin popular and academic media. Finally, we wish to high-light that it remains to be determined whether the currentGD dilemma is a sign of a broader discomfort with actuar-ial practices, public policies and access to life insurance ata time when many increasingly view this type of contrac-tual protection as a good of important psychosocial valuethat is necessary to obtain other important social andcommercial goods in post-industrial countries.

Authors’ contributionsYJ provided the concept of the study and drafted the manuscript. INFparticipated in the research and assisted with drafting the manuscript. JSprovided comments on the concept of the study and the draft of themanuscript. All authors read and approved the final manuscript.

Competing interestsThe authors declare that they have no competing interests.

AcknowledgementsThe authors would like to acknowledge the financial support of theMinistère du Développement économique, de l’Innovation et del’Exportation (Quebec) and the Canadian Institutes of Health Research.

Author details1Department of Human Genetics, Faculty of Medicine, McGill University, 740Dr Penfield Avenue, Suite 5200, Montreal, H3A 1A5 Canada. 2Department ofMolecular Medicine, Faculty of Medicine, Laval University, 2705 BoulevardLaurier, Quebec City, G1V 4G2 Canada.

Received: 31 July 2012 Accepted: 31 January 2013Published: 31 January 2013

References1. Lee C: Creating a genetic underclass: the potential for genetic

discrimination by the health insurance industry. Pace Law Rev 1993,13:189-228.

2. Nowland W: Human genetics. A rational view of insurance and geneticdiscrimination. Science 2002, 297:195-196.

3. Otlowski M, Barlow-Stewart K, Taylor S, Stranger M, Trealoar S: Investigatinggenetic discrimination in the Australian life insurance sector: the use ofgenetic test results in underwriting, 1999-2003. J Law Med 2007,14:367-396.

4. Low L, King S, Wilkie T: Genetic discrimination in life insurance: empiricalevidence from a cross sectional survey of genetic support groups in theUnited Kingdom. BMJ 1998, 317:1632-1635.

5. Cohen A: Can you be fired because of your genes? Time Ideas 2012[http://ideas.time.com/2012/02/20/can-you-be-fired-for-your-genes/].

6. Rothstein MA, Joly Y: Genetic information and insurance underwriting:contemporary issues and approaches in the global economy insurance.

In The Handbook of Genetics and Society: Mapping the New Genomic Era.Edited by: Atkinson P, Glasner P, Lock M. London: Routledge; 2009:127-144.

7. Rothstein MA: GINA’s beauty is only skin deep. Gene Watch 2009, 22:9-12.8. Thomas R: Genetics and insurance in the United Kingdom 1995-2010:

the rise and fall of “scientific” discrimination. New Genetics and Society2012, 31:203-222.

9. Otlowski M, Taylor S, Bombard Y: Genetic discrimination: internationalperspectives. Annu Rev Genomics Hum Genet 2012, 13:433-454.

10. O’Neil M: Genetic information, life insurance and social justice. The Monist2006, 89:567-592.

11. Knoppers BM, Joly Y: Physicians, genetics and life insurance. CMAJ 2004,170:1421-1423.

12. Neil HAW, Mant D: Cholesterol screening and life assurance. BMJ 1991,302:891-893.

13. Billings P, Khon M, De Cuevas M, Beckwith J, Alper J, Natowicz M:Discrimination as a consequence of genetic testing. Am J Hum Genet1992, 50:476-482.

14. McEwen JE, McCarthy K, Reilly PR: A survey of state insurancecommissioners concerning genetic testing and life insurance. Am J HumGenet 1992, 51:785-792.

15. McEwen JE, McCarthy K, Reilly PR: A survey of medical directors of lifeinsurance companies concerning use of genetic information. Am J HumGenet 1993, 55:33-45.

16. Alper J, Geller L, Barash C, Billings P, Laden V, Natowicz M: Geneticdiscrimination and screening for hemochromatosis. J Public Health Policy1994, 15:345-358.

17. Geller L, Alper J, Billings P, Barash C, Beckwith J, Natowicz M: Individual,family, and societal dimensions of genetic discrimination: a case studyanalysis. Sci Eng Ethics 1996, 2:71-88.

18. Lapham EV, Kozma C, Weiss JO: Genetic discrimination: perspectives ofconsumers. Science 1996, 274:621-624.

19. Rodriguez-Bigas MA, Vasen HF, O’Malley L, Rosenblatt MJ, Farell C,Weber TK, Petrelli NJ: Health, life and disability insurance and hereditarynonpolyposis colorectal cancer. Am J Med Genet 1998, 62:736-737.

20. Wertz DC: “Genetic discrimination": results of a survey of geneticsprofessionals, primary care physicians, patients and public. Health LawRev 1999, 7:7-8.

21. Morrison PJ, Steel CM, Nevin NC, Evans DG, Eccles DM, Vasen H, Møller P,Hodgson S, Stoppa-Lyonnet D, Chang-Claude J, Caligo M, Oláh E, Haites NE:Insurance considerations for individuals with a high risk of breast cancerin Europe: some recommendations. CME J Gynecol Oncol 2000, 5:272-277.

22. Norum J, Tranebjaerg L: Health, life and disability insurance andhereditary risk for breast or colorectal cancer. Acta Oncol 2000,39:189-193.

23. Barlow-Stewart K, Keays D: Genetic discrimination in Australia. J L Med2001, 8:250-262.

24. Marang-van de Mheen P, van Maarle M, Stouthard M: Getting insuranceafter genetic screening on familial hypercholesterolaemia; the need toeducate both insurers and the public to increase adherence to nationalguidelines in the Netherlands. J Epidemiol Community Health 2002,56:145-147.

25. Armstrong K, Weber B, FitzGerald G, Hershey J, Pauly M, Lemaire J,Subramanian K, Asch D: Life insurance and breast cancer risk assessment:adverse selection, genetic testing decisions, and discrimination. Am JMed Genet A 2003, 120A:359-364.

26. Shaheen NJ, Lawrence LB, Bacon BR, Barton JC, Barton NH, Galanko J,Martin CF, Burnett CK, Sandler RS: Insurance, employment, andpsychosocial consequences of a diagnosis of hereditaryhemochromatosis in subjects without end organ damage. Am JGastroenterol 2003, 98:1175-1180.

27. Apse KA, Biesecker BB, Giardiello FM, Fuller BP, Bernhardt BA: Perceptionsof genetic discrimination among at-risk relatives of colorectal cancerpatients. Genet Med 2004, 6:510-516.

28. Neil HA, Hammond T, Mant D, Humphries SE: Effect of statin treatment forfamilial hypercholesterolaemia on life assurance: results of consecutivesurveys in 1990 and 2002. BMJ 2004, 328:500-501.

29. Watson M, Foster C, Eeles R, Eccles DM, Ashley S, Davidson R, Mackay J,Morrison PJ, Hopwood P, Evans DG, Psychosocial Study Collaborators:Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictivegenetic testing in a UK multi-centre clinical cohort. Br J Cancer 2004,91:1787-1794.


of 15

http://www.ncbi.nlm.nih.gov/pubmed/11659744?dopt=Abstract










http://ideas.time.com/2012/02/20/can-you-be-fired-for-your-genes/


































30. Foster C, Watson M, Eeles R, Ashley S, Davidson R, Mackay J, Morrison PJ,Hopwood P, Evans D, Psychosocial Study Collaborators: Predictive genetictesting for BRCA1/2 in a UK clinical cohort: three-year follow-up. Br JCancer 2007, 96:718-724.

31. Hall M, Barton J, Adams P, McLaren C, Reiss J, Castro O, Ruggiero A,Acton R, Power T, Bent T: Genetic screening for iron overload: noevidence of discrimination at 1 year. J Fam Pract 2007, 56:829-834.

32. Taylor S, Treloar S, Barlow-Stewart K, Stranger M, Otlowski M: Investigatinggenetic discrimination in Australia: a large-scale survey of clinicalgenetics clients. Clin Genet 2008, 74:20-30.

33. Barlow-Stewart K, Taylor SA, Stranger M, Otlowski M: Verification ofconsumers’ experiences and perceptions of genetic discrimination andits impact on utilization of genetic testing. Genet Med 2009, 11:193-201.

34. Otlowski MFA, Stranger MJA, Taylor S, Barlow-Stewart K, Trealoar S:Investigating genetic discrimination in Australia: perceptions andexperiences of clinical genetics service clients regarding coercion totest, insurance and employment. Australia Journal of EmergingTechnologies and Society 2007, 5:63-83.

35. Otlowski MFA, Stranger MJA, Taylor S, Barlow-Stewart K, Trealoar S: The useof legal remedies in Australia for pursuing allegations of geneticdiscrimination: findings of an empirical study. Int J Discrim Law 2007,9:3-35.

36. Bombard Y, Penziner E, Suchowersky O, Guttman M, Paulsen JS, Bottorff JL,Hayden MR: Engagement with genetic discrimination: concerns andexperiences in the context of Huntington disease. Eur J Hum Genet 2008,16:279-289.

37. Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS,Bottorff JL, Hayden MR, TCR-HCR Group: Perceptions of geneticdiscrimination among people at risk for Huntington’s disease: a crosssectional survey. BMJ 2009, 338:b2175.

38. Lemke T: ’A slap in the face’. An exploratory study of geneticdiscrimination in Germany. Genomics, Society and Policy 2009, 5:22-39.

39. McKinnon W, Banks KC, Skelly J, Kohlmann W, Bennett R, Shannon K,Larson-Haidle J, Ashakaga T, Weitzel JN, Wood M: Survey of unaffectedBRCA and mismatch repair (MMR) mutation positive individuals. FamCancer 2009, 8:363-369.

40. Christiaans I, Kok TM, Langen I, Birnie E, Bonsel G, Wilde A, Smets E:Obtaining insurance after DNA diagnostics: a survey amonghypertrophic cardiomyopathy mutation carriers. Eur J Hum Genet 2010,18:251-253.

41. Erwin C, Williams JK, Juhl AR, Mengeling M, Mills JA, Bombard Y,Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS, I-RESPOND-HDInvestigators of the Huntington Study Group: Perception, experience, andresponse to genetic discrimination in Huntington disease: theinternational RESPOND-HD study. Am J Med Genet B Neuropsychia Genet2010, 153B:1081-1093.

42. Klitzman R: Views of discrimination among individuals confrontinggenetic disease. J Genet Couns 2010, 19:68-83.

43. Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Bottorff JL,Hayden MR, The Canadian Respond-HD Collaborative Reseach Group:Beyond the patient: the broader impact of genetic discriminationamong individuals at risk of Huntington disease. Am J Med Genet BNeuropsychia Genet 2012, 159B:217-226.

44. Huijgen R, Homsma S, Hutten B, Kindt I, Vissers M, Kastelein J, vanRijckevorsel J: Improved access to life insurance after genetic diagnosisof familial hypercholesterolaemia: cross-sectional postal questionnairestudy. Eur J Hum Genet 2012, 20:722-728.

45. Australian Law Reform Commission: ALRC 96 report: essentially yours: theprotection of human genetic information in Australia Canberra: AustralianLaw Reform Commission; 2003.

46. Rothstein MA: Keeping your genes private. Scientific American 2008, 64-69.47. Treloar S, Taylor S, Otlowski M, Barlow-Stewart K, Stranger M, Chenoweth K:

Methodological considerations in the study of genetic discrimination.Comm Genet 2004, 7:161-168.

Pre-publication historyThe pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1741-7015/11/25/prepub

doi:10.1186/1741-7015-11-25Cite this article as: Joly et al.: Genetic discrimination and life insurance:a systematic review of the evidence. BMC Medicine 2013 11:25.

Submit your next manuscript to BioMed Centraland take full advantage of:

• Convenient online submission

• Thorough peer review

• No space constraints or color figure charges

• Immediate publication on acceptance

• Inclusion in PubMed, CAS, Scopus and Google Scholar

• Research which is freely available for redistribution

Submit your manuscript at www.biomedcentral.com/submit


of 15

























http://www.biomedcentral.com/1741-7015/11/25/prepub

research article open access genetic discrimination and life insurance… · 2017-08-23 ·...

Documents